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Updated: Sep 22, 2025

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases
Published on: May 29, 2020
Adolescent onset of autoimmune polyglandular syndrome type 2
Siobhan A Murphy1, Fazly Helmi Mohd Din1, Michael Joseph O'Grady2,3
1Department of Paediatrics, Midland Regional Hospital, Mullingar, Westmeath, Ireland.
Abstract:
An adolescent female was evaluated for fatigue, anorexia and unintentional weight loss of 7 kg. Initial investigations revealed subclinical autoimmune thyroid dysfunction, which progressed to overt hypothyroidism necessitating thyroxine replacement. She had entered early puberty, but this did not appear to be progressing. A high index of suspicion for coexisting endocrinopathies resulted in a diagnosis of Addison's disease and consequently autoimmune polyglandular syndrome type 2 (Schmidt syndrome). While basal gonadotropins were normal, anti-Mullerian hormone was low and ovarian autoantibodies were positive, consistent with preclinical premature ovarian failure. Glucocorticoid and mineralocorticoid replacement were instituted. Puberty progressed and menarche was subsequently attained. Screening for other autoantibodies was undertaken; however, none are positive to date.
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